NPRL2

Gene product: nitrogen permease regulator 2-like protein.

Protein function: As a component of the GATOR1 complex, it can inhibit the mTORC1 signaling pathway.

Phenotype: Familial Focal Epilepsy With Variable Foci（AD）[1]；sleep-related hypermotor (hyperkinetic) epilepsy（AD）[2]；Infantile Epileptic Spasms Syndrome[3]。

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 37741786 (Seizure. 2024); PMID: 37259768 (Epilepsia Open. 2023))

Medication reminder: Anti-epileptic drugs are often ineffective. For patients with refractory epilepsy with clear lesions, surgical treatment can be considered [4].

References:

1. Ann Neurol. 2016 Jan;79(1):120-31.
2. Front Neurol. 2021 Nov 29:12:780799. 
3. Seizure. 2024 Mar:116:100-106. 
4. Epilepsia Open. 2023 Sep;8(3):969-979.